DK Phocomelia Syndrome
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DK Phocomelia Syndrome Overview

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Learn About DK Phocomelia Syndrome

What is the definition of DK Phocomelia Syndrome?

DK phocomelia syndrome is a very rare disorder characterized by shortened or absent arms (phocomelia), sac-like protrusions of the brain and the membranes that cover it through openings in the skull (encephalocele), variable brain abnormalities, urogenital abnormalities, and abnormally low platelets (thrombocytopenia). Intellectual development is usually normal. As of May 2010, less than 15 cases have been reported. The exact cause of this condition is unknown; but autosomal recessive inheritance has been suggested.

What are the alternative names for DK Phocomelia Syndrome?

DK phocomelia syndrome
Phocomelia thrombocytopenia encephalocele and urogenital malformations
Von Voss Cherstvoy syndrome

Who are the top DK Phocomelia Syndrome Local Doctors?

Experienced in DK Phocomelia Syndrome

Dr. Jonathan A. Braue

Dermatology

Experienced in DK Phocomelia Syndrome

Dr. Jonathan A. Braue

Dermatology

Referral may be required

Before you request

Indian River Health Services Inc

3555 10th Ct, Suite 200a,

Vero Beach, FL

772-563-4673

Languages Spoken:

English

See accepted insurances

Accepting New Patients

Offers Telehealth

Jonathan Braue is a Dermatologist practicing medicine in Vero Beach, Florida. Dr. Braue is rated as an Experienced provider by MediFind in the treatment of DK Phocomelia Syndrome. He is also highly rated in 56 other conditions, according to our data. His clinical expertise encompasses Sunburn, Actinic Keratosis, Warts, and Seborrheic Keratosis. Dr. Braue is board certified in American Board Of Dermatology, 2019. Dr. Braue is currently accepting new patients.

Experienced in DK Phocomelia Syndrome

Dr. Alan B. Chelius

Family Medicine

Experienced in DK Phocomelia Syndrome

Dr. Alan B. Chelius

Family Medicine

Before you request

Reading Hospital

420 South 5th Avenue,

West Reading, PA

484-628-8000

Languages Spoken:

English

See accepted insurances

Accepting New Patients

Alan Chelius is a primary care provider, practicing in Family Medicine in West Reading, Pennsylvania. Dr. Chelius is rated as an Experienced provider by MediFind in the treatment of DK Phocomelia Syndrome. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Glucocorticoid-Remediable Aldosteronism, Hypertension, Familial Hypertension, and Infant Hyperglycemia. Dr. Chelius is board certified in American Board Of Family Medicine. Dr. Chelius is currently accepting new patients.

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Experienced in DK Phocomelia Syndrome

Dr. Samantha N. Kiefer

Family Medicine

Experienced in DK Phocomelia Syndrome

Dr. Samantha N. Kiefer

Family Medicine

Before you request

University Hospitals Coordinated Care

3605 Warrensville Center Rd,

Beachwood, OH

440-599-7466

Languages Spoken:

English

See accepted insurances

Accepting New Patients

Offers Telehealth

Samantha Kiefer is a primary care provider, practicing in Family Medicine in Beachwood, Ohio. Dr. Kiefer is rated as an Experienced provider by MediFind in the treatment of DK Phocomelia Syndrome. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Hypothyroidism, Obesity in Children, Maturity Onset Diabetes of the Young, and High Cholesterol. Dr. Kiefer is currently accepting new patients.